Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
KCNJ1
Name:
potassium inwardly rectifying channel subfamily J member 1
Location:
11q24.3
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: potassium inwardly-rectifying channel, subfamily J, member 1
Symbol:
Description: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Five transcript variants encoding three different isoforms have been found for this gene.
